Volume 72; Issue 3

Molecular Genetics and Metabolism

Volume 72; Issue 3

1

Nonorthologous Gene Displacement of Phosphomevalonate Kinase

Sander M Houten, Hans R Waterham

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

2

Mutation of Proline 409 to Arginine in the Meander Region of Cytochrome P450c17 Causes Severe 17α-Hydroxylase Deficiency

Ching-Wan Lam, Wiebke Arlt, Chi-Kwok Chan, John W. Honour, Chin Jia Lin, Sui-Fan Tong, Kwong-Wai Choy, Walter L. Miller

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 231 KB

english, 2001

3

Placental Floor Infarction Complicating the Pregnancy of a Fetus with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency

Dietrich Matern, Bahig M. Schehata, Prem Shekhawa, Arnold W. Strauss, Michael J. Bennett, Piero Rinaldo

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 450 KB

english, 2001

4

Congenital Lactic Acidosis: Evaluation of the Properties of the A199T Natural Variant of Human Pyruvate Dehydrogenase E1α by in Vitro Mutation

Yong-Ge Wu, S.Linda Widjaja, Chang-Yi Huang, Wei Li, Peter F. Nixon, Ronald G. Duggleby

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 59 KB

english, 2001

5

Metabolic Studies of Glycosphingolipid Accumulation in Mucopolysaccharidosis IIID

Sean S. Liour, Margaret Z. Jones, Minoru Suzuki, Erhard Bieberich, Robert K. Yu

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 142 KB

english, 2001

6

Enzyme Replacement Therapy in Feline Mucopolysaccharidosis I

E.D. Kakkis, E. Schuchman, X. He, Q. Wan, S. Kania, S. Wiemelt, C.W. Hasson, T. O'Malley, M.A. Weil, G.A. Aguirre, D.E. Brown, M.E. Haskins

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 3.57 MB

english, 2001

7

Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays

Rong Mao, John F. O'Brien, Subramanya Rao, Eric Schmitt, Benjamin Roa, Gerald L. Feldman, W.Christine Spence, Karen Snow

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 163 KB

english, 2001

8

2,8-Dihydroxyadenine Urolithiasis in a Patient with Considerable Residual Adenine Phosphoribosyltransferase Activity in Cell Extracts but with Mutations in Both Copies of APRT

Li Deng, Min Yang, Stefan Fründ, Torsten Wessel, Ronney A De Abreu, Jay A Tischfield, Amrik Sahota

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 392 KB

english, 2001

9

Molecular Diagnosis of Wilson Disease

Patrice Butler, Neil McIntyre, Pramod K. Mistry

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 63 KB

english, 2001

10

A Sequence Variation in the Mitochondrial Glycerol-3-Phosphate Dehydrogenase Gene Is Associated with Increased Plasma Glycerol and Free Fatty Acid Concentrations among French Canadians

Julie St-Pierre, Marie-Claude Vohl, Diane Brisson, Patrice Perron, Jean-Pierre Després, Thomas J. Hudson, Daniel Gaudet

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 88 KB

english, 2001

11

Prenatal Diagnosis of Succinic Semialdehyde Dehydrogenase Deficiency: Increased Accuracy Employing DNA, Enzyme, and Metabolite Analyses

B.M. Hogema, S. Akaboshi, M. Taylor, G.S. Salomons, C. Jakobs, Ruud B. Schutgens, B. Wilcken, S. Worthington, G. Maropoulos, M. Grompe, K.M. Gibson

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 53 KB

english, 2001

12

Subcutaneous Abdominal Adipocyte Size, a Predictor of Type 2 Diabetes, Is Linked to Chromosome 1q21–q23 and Is Associated with a Common Polymorphism in LMNA in Pima Indians

Christian Weyer, Johanna K. Wolford, Robert L. Hanson, James E. Foley, P.Antonio Tataranni, Clifton Bogardus, Richard E. Pratley

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 78 KB

english, 2001

13

Impaired Arachidonic (20:4n-6) and Docosahexaenoic (22:6n-3) Acid Synthesis by Phenylalanine Metabolites as Etiological Factors in the Neuropathology of Phenylketonuria

Juan P. Infante, Virginia A. Huszagh

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 125 KB

english, 2001

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